Canonical Allele Identifier: CA369641834

Gene: CLCN1

Linked Data

• dbSNP Id: rs80356703
• gnomAD v3: 7-143331265-G-T
• gnomAD v4: 7-143331265-G-T
• MyVariant Identifiers: chr7:g.143028358G>T (hg19) ; chr7:g.143331265G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143331265G>T , CM000669.2:g.143331265G>T	GRCh38
NC_000007.13:g.143028358G>T , CM000669.1:g.143028358G>T	GRCh37
NC_000007.12:g.142738480G>T	NCBI36
NG_009815.1:g.20140G>T
NG_009815.2:g.20140G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000650516.2:c.1013G>T	ENSP00000498052.2:p.Arg338Leu
ENST00000343257.7:c.1013G>T MANE Select	ENSP00000339867.2:p.Arg338Leu
ENST00000432192.6:c.837G>T
ENST00000343257.6:c.1013G>T	ENSP00000339867.2:p.Arg338Leu
NM_000083.2:c.1013G>T	NP_000074.2:p.Arg338Leu
NR_046453.1:n.1103G>T
XM_011515781.1:c.1013G>T	XP_011514083.1:p.Arg338Leu
XM_017011739.1:c.563G>T	XP_016867228.1:p.Arg188Leu
XM_017011740.1:c.563G>T	XP_016867229.1:p.Arg188Leu
NM_000083.3:c.1013G>T MANE Select	NP_000074.3:p.Arg338Leu
NR_046453.2:n.1118G>T